Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia

Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia

Osteogenesis imperfecta (OI) and X-linked hypophosphataemia (XLH) are rare genetic diseases, which lead to childhood-onset bone fragility, low-trauma fractures and limb deformities. OI occurs as a result of impaired type 1 collagen synthesis at different stages, depending on the type of a genetic mu...

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Bibliographic Details
Main Authors: Irina Yu. Popova, Tatiana A. Grebennikova, Anatoly N. Tiulpakov, Kristina S. Kulikova, Liudmila Y. Rozhinskaya, Zhanna E. Belaya
Format: Article
Language:English
Published: Endocrinology Research Centre 2018-04-01
Series:Остеопороз и остеопатии
Subjects:
osteogenesis imperfecta
x-linked hypophosphataemia
phosphorus
osteoporosis
hereditary diseases
case report
Online Access:https://osteo-endojournals.ru/osteo/article/viewFile/9756/7284

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https://osteo-endojournals.ru/osteo/article/viewFile/9756/7284

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